Gene Locus : human-LIPA
Mode of mutation : Natural mutant
Disease : Wolman disease WD, Cholesterol Ester Storage Disease, CESD
Summary :
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity :
Modification :
Torpedo_number : No torpedo number
Kinetic Parameter : No kinetic parameter
News : No news
Comment :
A female patient compound heteerozygote c.308G>A\/p.S103N in exon 4 and c.607G>C\/p.V203L in exon 6
| Title : Two cases of late-onset lysosomal acid lipase deficiency with Achilles tendon thickening - Michikura_2026_J.Clin.Lipidol__ |
| Author(s) : Michikura M , Harada-Shiba M , Matsuki K , Ogura M , Morita H |
| Ref : J Clin Lipidol , : , 2026 |
| Abstract : |
| PubMedSearch : Michikura_2026_J.Clin.Lipidol__ |
| PubMedID: 42493326 |
| Gene_locus related to this paper: human-LIPA |